Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal dominant genetic disorder. It is characterised by the abnormalities of the skin, skull, fingers and genitals. An inherited disease, the physical malformations also affects the nipples and the abdominal wall.
Infants born with AMS have significant facial features and is akin to Barber-Say syndrome (also demonstrates autosomal dominant inheritance). Even to date, medical experts and doctors are unaware of the exact reason by AMS develops in an infant .Causes Of Ablepharon-macrostomia Syndrome
The underlying reason for the genetic disorder is still unknown. Some studies point out that the disorder may be inherited, as an autosomal recessive genetic trait.
In autosomal dominant disorders, a single copy of the disease gene will be the dominant one, with the other normal gene. The risk of transmitting the disorder from affected parent to offspring is 50 per cent .
Symptoms Of Ablepharon-macrostomia Syndrome
The genetic disorder is characterised by the impairments affecting the facial and head area. It also affects the fingers, skin and the genitals .
The signs and symptoms of the genetic condition are as follows :
The genetic condition can be diagnosed by the doctors at the birth of the child. The characteristic physical features such as the facial features aid the doctor in diagnosing the condition .
The doctor will carry out a physical examination and clinical evaluation to determine the condition. Then, the medical expert will recommend carrying out the following tests:
The medical care provided for the genetic condition is dependent on the specific symptoms that are apparent in each individual. Therapies specified for AMS are symptomatic and supportive .
In most cases, plastic surgery and reconstructive surgery are recommended to correct the abnormalities of the eyelids, mouth, and ears.
In some cases, surgery may also be performed to correct other eye abnormalities, certain skin abnormalities, malformations of the fingers, malformations of the external genitalia, and/or ventral hernias .